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Substitution mutation

Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study

Magali Olivier, Liacine Bouaoun, Stephanie Villar, Alexis Robitaille, Vincent Cahais, Adriana Heguy, Graham Byrnes, Florence Le Calvez-Kelm, Gabriela Torres-Mejía, Isabel Alvarado-Cabrero, Fazlollah Shahram Imani-Razavi, Gloria Inés Sánchez, Roberto Jaramillo, Carolina Porras, Ana Cecilia Rodriguez, Maria Luisa Garmendia, José Luis Soto, Isabelle Romieu, Peggy Porter, Jamie Guenthoer, Sabina Rinaldi, on behalf of the PRECAMA team

published 17 Jan 2019

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Analysis of antifungal resistance genes in Candida albicans and Candida glabrata using next generation sequencing

Kathrin Spettel, Wolfgang Barousch, Athanasios Makristathis, Iris Zeller, Marion Nehr, Brigitte Selitsch, Michaela Lackner, Peter-Michael Rath, Joerg Steinmann, Birgit Willinger

published 10 Jan 2019

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Structural instability of IκB kinase β promotes autophagic degradation through enhancement of Keap1 binding

Mayu Kanamoto, Yoshihiro Tsuchiya, Yuki Nakao, Takafumi Suzuki, Hozumi Motohashi, Masayuki Yamamoto, Hideaki Kamata

published 30 Nov 2018

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Multiple configurations of EGFR exon 20 resistance mutations after first- and third-generation EGFR TKI treatment affect treatment options in NSCLC

Michael E. Goldberg, Meagan Montesion, Lauren Young, James Suh, Joel Greenbowe, Mark Kennedy, Giuseppe Giaccone, Wallace L. Akerley, Afshin Dowlati, Benjamin C. Creelan, James K. Hicks, Paul J. Hesketh, Karen L. Kelly, Jonathan W. Riess, Vincent A. Miller, Philip J. Stephens, Garrett M. Frampton, Siraj Ali, Jeffrey P. Gregg, Lee A. Albacker

published 27 Nov 2018

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HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study

Bastian Oppl, Emma Husar-Memmer, Svea Pfefferkorn, Martha Blank, Peter Zenz, Eva Gollob, Christian Wurnig, Alfred Engel, Andreas Stadlmayr, Gökhan Uyanik, Wolfgang Brozek, Klaus Klaushofer, Jochen Zwerina, Christian Datz

published 14 Nov 2018

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Loss of charge mutations in solvent exposed Lys residues of superoxide dismutase 1 do not induce inclusion formation in cultured cell models

Keith Crosby, Anthony M. Crown, Brittany L. Roberts, Hilda Brown, Jacob I. Ayers, David R. Borchelt

published 06 Nov 2018

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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

Kirsten E. Hoff, Karen L. DeBalsi, Maria J. Sanchez-Quintero, Matthew J. Longley, Michio Hirano, Ali B. Naini, William C. Copeland

published 29 Aug 2018

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Relationship between danofloxacin PK/PD parameters and emergence and mechanism of resistance of Mycoplasma gallisepticum in In Vitro model

Nan Zhang, Yuzhi Wu, Zilong Huang, Chuanzhen Zhang, Longfei Zhang, Qinren Cai, Xiangguang Shen, Hongxia Jiang, Huanzhong Ding

published 29 Aug 2018

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Influenza A/H3N2 virus infection in immunocompromised ferrets and emergence of antiviral resistance

Rueshandra Roosenhoff, Erhard van der Vries, Anne van der Linden, Geert van Amerongen, Koert J. Stittelaar, Saskia L. Smits, Martin Schutten, Ron A. M. Fouchier

published 19 Jul 2018

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Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

Elena Makareeva, Guoli Sun, Lynn S. Mirigian, Edward L. Mertz, Juan C. Vera, Nydea A. Espinoza, Kathleen Yang, Diana Chen, Teri E. Klein, Peter H. Byers, Sergey Leikin

published 10 Jul 2018

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Comparison of chikungunya viruses generated using infectious clone or the Infectious Subgenomic Amplicons (ISA) method in Aedes mosquitoes

Souand Mohamed Ali, Anubis Vega-Rúa, Jean-Sélim Driouich, Xavier de Lamballerie, Anna-Bella Failloux, Antoine Nougairède

published 28 Jun 2018

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Development of ultra-short PCR assay to reveal BRAF V600 mutation status in Thai colorectal cancer tissues

Nunthawut Chat-Uthai, Pichpisith Vejvisithsakul, Sutthirat Udommethaporn, Puttarakun Meesiri, Chetiya Danthanawanit, Yannawan Wongchai, Chinachote Teerapakpinyo, Shanop Shuangshoti, Naravat Poungvarin

published 07 Jun 2018

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Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, Haya Al-balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki

published 30 May 2018

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